Open AccessCases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant
Author(s) -
Y. Daeugut,
Sumit Mohan,
Ali G. Gharavi,
Krzysztof Kiryluk
Publication year - 2019
Publication title -
annals of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.839
H-Index - 390
eISSN - 1539-3704
pISSN - 0003-4819
DOI - 10.7326/m19-1389
Subject(s) - medicine , genetic testing , kidney disease , disease , exome sequencing , kidney transplantation , bioinformatics , kidney , intensive care medicine , genetics , gene , mutation , biology
This article discusses potential indications for genetic testing in an African American patient with chronic kidney disease who is being evaluated for a kidney transplant. Two known risk variants in the APOL1 (apolipoprotein L1) gene predispose to kidney disease and are found almost exclusively in persons of African ancestry. APOL1 risk variants are considered, including whether clinicians should incorporate genetic testing in the screening process for living kidney donors. In addition to APOL1 testing, the role of diagnostic exome sequencing in evaluating potential transplant recipients and donors with a positive family history of kidney disease is discussed.